(Q24531981)

4 July 2017

0 references

Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density (English)

1 reference

4 July 2017

Wim Van Hul

14

0 references

Tara Renton

8

object named as

Tara Renton

1 reference

4 July 2017

Liesbeth Van Wesenbeeck

1

1 reference

4 July 2017

Erna Cleiren

2

1 reference

4 July 2017

Jeppe Gram

3

1 reference

4 July 2017

Rodney K Beals

4

1 reference

4 July 2017

Olivier Bénichou

5

1 reference

4 July 2017

Domenico Scopelliti

6

1 reference

4 July 2017

Lyndon Key

7

1 reference

4 July 2017

Cindy Bartels

9

1 reference

4 July 2017

Yaoqin Gong

10

1 reference

4 July 2017

Matthew L Warman

11

1 reference

4 July 2017

Marie-Christine De Vernejoul

12

1 reference

4 July 2017

Jens Bollerslev

13

1 reference

4 July 2017

language of work or name

English

0 references

publication date

10 February 2003

1 reference

American Journal of Human Genetics

4 July 2017

1 reference

4 July 2017

72

1 reference

4 July 2017

763-771

1 reference

4 July 2017

3

1 reference

Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease

4 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180253

A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180253

Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180253

Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180253

Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180253

Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180253

Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180253

Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180253

Localization of the gene causing autosomal dominant osteopetrosis type I to chromosome 11q12-13

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180253

High bone density due to a mutation in LDL-receptor-related protein 5

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180253

Seven novel sequence variants in the human low density lipoprotein receptor related protein 5 (LRP5) gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180253

Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180253

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180253

Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180253

Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180253

Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180253

Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180253

Dominant endosteal hyperostosis. Skeletal characteristics and review of the literature

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180253

Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180253

Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180253

27 September 2017

Endosteal hyperostosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180253

Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann disease

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180253

[Van Buchem disease. Maxillofacial changes, diagnostic classification and general principles of treatment]

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12579474

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Differential diagnosis and treatment of autosomal dominant osteosclerosis of the mandible

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12579474

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/368277

1 reference

release_6ni6a35qmnd6plob2qsdi2yhcq

4 July 2017

0 references

OpenCitations bibliographic resource ID

2060984

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference